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Gene: Pdia6 MGI:1919103

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Gene Summary

Name:
protein disulfide isomerase associated 6
Synonyms:
1700015E05Rik,  CaBP5,  Txndc7,  P5

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Pdia6tm1b(EUCOMM)Hmgu HET Late adult 0.00
enlarged thyroid gland Pdia6tm1b(EUCOMM)Hmgu HET Late adult 0.00
decreased CD4-positive NK T cell number Pdia6tm1b(EUCOMM)Hmgu HET Late adult 0.000100
increased total body fat amount Pdia6tm1b(EUCOMM)Hmgu HET   Early adult 1.35×10-05
abnormal gait Pdia6tm1b(EUCOMM)Hmgu HET Late adult 5.57×10-06
preweaning lethality, complete penetrance Pdia6tm1b(EUCOMM)Hmgu HOM   Early adult 0.000134

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Pdia6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pdia6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Reduced natural killer cell activity, Decreas... OMIM:300400
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Spl... OMIM:226990
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Failure to thrive ... OMIM:617241
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In... OMIM:619313
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... OMIM:617514
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... OMIM:615401
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia, Goiter OMIM:274240
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis, Hepatic steatosis ORPHA:79087
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Primary gonadal insufficiency, Progres... OMIM:210740
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Reduced natural killer cell activity, Decreased ci... OMIM:619281
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism ORPHA:97285
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter OMIM:180295
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m... OMIM:613501
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Euthyroid goiter, Thrombocytopenia ORPHA:3327
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade... OMIM:603909
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... OMIM:308240
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Failure to thrive, Lack of T cell function, Increased circ... ORPHA:277
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... OMIM:269840
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Blepharochalasis And Double Lip
Goiter OMIM:109900
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, Hypopituitar... ORPHA:98813
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:612782
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin... OMIM:607271
Mirage Syndrome
Hypoglycemia, Lymphopenia, Leukopenia, Adrenal insufficiency, Decreased testicular size, Cryptorc... OMIM:617053
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus... OMIM:274300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... ORPHA:100024
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Type I diabetes mellitus, ... OMIM:620430
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... ORPHA:411593
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... OMIM:208900
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level, Hemophago... OMIM:301078
Pendred Syndrome
Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism, Ataxia ORPHA:705
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole... OMIM:612526
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa... OMIM:618048
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat... OMIM:620603
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... OMIM:602450
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter ORPHA:142
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration OMIM:620478
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase... ORPHA:507
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Failure to thrive, Decreased circulating antibody level, Splenomegaly, Lym... ORPHA:397596
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,... OMIM:608971
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... ORPHA:1332
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... OMIM:275000
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Intestinal lymphangiectasia, Elevated haptoglob... OMIM:620632
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... ORPHA:169154
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thromb... OMIM:616740
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient neonatal diabet... ORPHA:99886
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen... OMIM:242700
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... OMIM:615703
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... OMIM:615767
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia ORPHA:83601
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ... OMIM:243150
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Adrenal hypop... OMIM:619151
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi... OMIM:606367
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Type II diabetes mellitus, Poly... ORPHA:100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Type I diabetes mellitus, Failure to thrive, Pancytopenia, Decre... OMIM:614700
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Malaria
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:673
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Failure to thrive, Increased circulating IgE level, Lymphopenia, Decr... OMIM:102700
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... OMIM:598500
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia, Intestinal lymphangiectasia OMIM:152800
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Reduced circ... OMIM:618944
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Failure to thrive, Increased circulating IgE level, Decrease... OMIM:304790
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:67048
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Aicardi-Goutieres Syndrome 6
Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Hepatomegal... OMIM:615010
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality... ORPHA:33355
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Maffucci Syndrome
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... ORPHA:163634
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypoglycemia, D... ORPHA:293978
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... ORPHA:79124
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Ery... OMIM:612541
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormali... ORPHA:229717
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Ne... ORPHA:79312
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Lymphadenopathy, Thrombocy... OMIM:619644
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Failure to thr... ORPHA:572
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Babesiosis
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia ORPHA:108
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Hypothyroidism, Thrombocy... OMIM:620184
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase concentra... OMIM:614727
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level, Hypoproteinemia ORPHA:1116
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat... OMIM:600802
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly,... OMIM:617591
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Pediatric-Onset Graves Disease
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... ORPHA:525731
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Hepatic steatosis, Hyperur... ORPHA:79083
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly OMIM:231000
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Increased circulating interleukin 6 concentration, He... ORPHA:540
Congenital Toxoplasmosis
Failure to thrive in infancy, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impai... OMIM:613179
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Throm... OMIM:251000
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Leukopenia, Spl... ORPHA:381
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Immunodeficiency 22
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr... OMIM:615758
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Lymphopenia, Cryptorchidism, Hypoth... OMIM:616541
Syndromic Diarrhea
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ... ORPHA:84064
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morpho... ORPHA:169105
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulating thyroid-s... ORPHA:226313
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hypertrigl... ORPHA:2348
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Immunodeficiency 40
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome... OMIM:616433
Tafro Syndrome
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... ORPHA:457077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
X-Linked Agammaglobulinemia
Hepatitis, Failure to thrive, Hypocalcemia, Abnormality of the lymphatic system, Agammaglobulinem... ORPHA:47
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Propionic Acidemia
Failure to thrive, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pan... OMIM:606054
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Specific Granule Deficiency 2
Failure to thrive, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia OMIM:617475
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Cowden Syndrome 1
Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyro... OMIM:158350
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Preeclampsia
Abnormality of the hepatic vasculature, Type I diabetes mellitus, Elevated circulating creatinine... ORPHA:275555
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:290
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Hypocalcemic tetany... ORPHA:83471
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hy... ORPHA:848
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... ORPHA:210136
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Failure to thrive OMIM:602361
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Type I diabetes ... ORPHA:227990
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes ORPHA:3204
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Elevated circulati... OMIM:620376
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Decreased circulating IgA level, Splenom... OMIM:613327
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... OMIM:614034
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Bloom Syndrome
Insulin resistance, Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating... ORPHA:125
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Thrombocytopenia,... OMIM:249270
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytope... OMIM:251110
Cowden Syndrome 6
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615109
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Type I diabetes ... ORPHA:227982
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Increased circulating ferri... ORPHA:77259
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno... OMIM:609981
Mccune-Albright Syndrome
Precocious puberty, Bone marrow hypocellularity, Increased circulating cortisol level, Increased ... ORPHA:562
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Whipple Disease
Insulin resistance, Splenomegaly, Hyponatremia, Hepatomegaly, Cachexia, Hypothyroidism, Anemia, M... ORPHA:3452
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hereditary Folate Malabsorption
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased ... ORPHA:90045
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, ... OMIM:601495
Pelger-Huet Anomaly
Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neut... OMIM:169400
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, ... OMIM:617575
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Cryptorchidism, Hypomet... OMIM:614857
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute... ORPHA:319218
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Failure to thrive, Impaire... ORPHA:1830
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... OMIM:242900
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia OMIM:612952
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Intraalveolar phospholipid accumulation, Hepatitis, Increased circulating IgE level... OMIM:620565
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Mevalonic Aciduria
Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le... OMIM:610377
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Cholestasis, Elevated circulating creatinine concentration, D... OMIM:608104
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Diffuse Neonatal Hemangiomatosis
Anemia, Hepatomegaly, Hypercalcemia, Thrombocytopenia ORPHA:2123
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Peritonitis, Thrombocyto... ORPHA:391673
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut... OMIM:614520
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter OMIM:616858
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen... ORPHA:520
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Weight l... ORPHA:47612
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... OMIM:210250
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Overlap Myositis
Abnormal circulating lipid concentration, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:206572
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Prolidase Deficiency
Failure to thrive, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundic... OMIM:170100
Lig4 Syndrome
Failure to thrive, Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, Throm... OMIM:606593
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Stt3B-Cdg
Cryptorchidism, Failure to thrive, Thrombocytopenia ORPHA:370924
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA lev... OMIM:615934
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia OMIM:620443
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Failure to thrive, Thrombocytopenia OMIM:615597
Smith-Kingsmore Syndrome
Hypoglycemia, Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Thrombo... OMIM:616638
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Pseudo-Torch Syndrome 3
Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocyto... OMIM:618886
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Failure to thrive, Cryptorchidism, Hypo... OMIM:214110
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomegaly, Decreased circulatin... OMIM:605309
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio... OMIM:614576
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology... ORPHA:292
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... OMIM:251880
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Portal hypertension, Splenomegaly, Thrombocytopenia, H... OMIM:619463
Dengue Fever
Hepatomegaly, Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to thrive, Abno... ORPHA:911
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Failure to thrive, Pancytopenia, ... OMIM:613989
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:435660
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex... OMIM:620005
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Avian Influenza
Hypoalbuminemia, Hepatitis, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concent... ORPHA:454836
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Sp... OMIM:606003
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia... ORPHA:391487
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Decreased HDL cholesterol concentration, Hepatic... ORPHA:280365
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250